PDB
MCID: PGT001
MIFTS: 53

Paget's Disease of Bone (PDB) malady

Bone category

Summaries for Paget's Disease of Bone

Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 47OMIM, 33MalaCards
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MedlinePlus:34 Paget's disease of bone causes your bones to grow too large and weak. they also might break easily. the disease can lead to other health problems, too, such as arthritis and hearing loss. you can have paget's disease in any bone, but it is most common in the spine, pelvis, skull, and legs. the disease might affect one or several bones, but not your entire skeleton. more men than women have the disease. it is most common in older people. no one knows what causes paget's disease. in some cases, a virus might be responsible. it tends to run in families. many people do not know they have paget's disease because their symptoms are mild. for others, symptoms can include pain enlarged bones broken bones damaged cartilage in joints doctors use blood tests and imaging tests to diagnose paget's disease. early diagnosis and treatment can prevent some symptoms from getting worse. treatments include medicines and sometimes surgery. a good diet and exercise might also help. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Paget's Disease of Bone, also known as paget disease of bone, is related to frontotemporal dementia and inclusion body myopathy with early-onset paget disease and frontotemporal dementia. An important gene associated with Paget's Disease of Bone is SQSTM1 (sequestosome 1), and among its related pathways are Osteoblast Signaling and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. The drugs calcitonin and salmon calcitonin and the compounds hcc-1 and denosumab have been mentioned in the context of this disorder. Affiliated tissues include skull, vertebral column and pelvis, and related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology:8 A bone formation disease that has material basis in hyperactive osteoclast which results in abnormal osteoblast bone formation located in skull, located in pelvis, located in vertebral column, located in set of limbs.

NIH Rare Diseases:43 Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. this condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. the disease may affect only one bone or several bones; but it does not affect the entire skeleton. bones with paget disease may break more easily, and the disease can lead to other health problems. the cause of paget disease is unknown, although it may be associated with faulty genes or viral infections early in life. last updated: 12/12/2011

Genetics Home Reference:21 Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).

Description from OMIM:47 602080

Aliases & Classifications for Paget's Disease of Bone

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone


Aliases & Descriptions:

paget's disease of bone 8 21 34
paget disease of bone 9 43 20 21 47
osteitis deformans 8 43 22 21 61
osseous paget's disease 8 21
pdb 43 21
pagets disease of bone 10
paget's bone disease 8
paget disease, bone 21
pagets bone disease 45


External Ids:

Disease Ontology8 DOID:5408
OMIM47 602080
NCIt40 C3292
ICD1025 M88

Related Diseases for Paget's Disease of Bone

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Paget's Disease of Bone family:

paget disease of bone, familial

Diseases related to Paget's Disease of Bone via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1frontotemporal dementia31.0VCP, SQSTM1
2inclusion body myopathy with early-onset paget disease and frontotemporal dementia30.8VCP
3mammary paget's disease30.3SQSTM1, VCP
4osteitis fibrosa30.3ALPP
5osteoporosis30.3CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, DKK1, ACP5
6primary hyperparathyroidism30.2CALCA, ACP5, ALPP
7hypophosphatasia30.1ALPP
8inclusion body myopathy with paget disease of bone and/or frontotemporal dementia10.4
9paget disease of bone, familial10.4
10angioid streaks10.3
11autosomal dominant disease10.3
12inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.3
13spastic paraplegia - paget disease of bone10.3
14iritis10.2
15hemifacial spasm10.2
16cancer progression/metastasis10.2
17limb-girdle muscular dystrophy10.2
18bone osteosarcoma10.2
19n syndrome10.1
20hypophosphatasia, infantile10.1
21nevus comedonicus syndrome10.1
22osteonecrosis10.0ALPP
23root resorption10.0TNFRSF11B
24primary hyperoxaluria10.0TNFRSF11B
25anorexia nervosa10.0TNFRSF11B
26neuropathy10.0GNE, CALCA
27giant cell tumor10.0CALCA, TNFSF11
28hepatitis10.0ALPP
29giant cell reparative granuloma10.0CALCA, TNFRSF11A
30periodontitis10.0TNFRSF11B
31arthropathy10.0TNFRSF11B, TNFSF11
32osteopetrosis10.0TNFRSF11A, TNFSF11, TNFRSF11B
33leukemia10.0ALPP, ACP5
34hyperthyroidism10.0ACP5, ALPP
35thyroiditis10.0CALCA
36osteosclerosis10.0TNFSF11, TNFRSF11B, ALPP
37polyostotic osteolytic dysplasia, hereditary expansile10.0TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1
38blindness10.0OPTN
39paget disease, juvenile10.0CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
40osteomyelitis10.0TNFSF11, ACP5
41gingivitis10.0TNFSF11, TNFRSF11B, ALPP
42rickets10.0ACP5, ALPP
43multiple myeloma10.0TNFSF11, TNFRSF11B, DKK1
44renal osteodystrophy10.0CALCA, TNFRSF11B, ACP5, ALPP
45bone carcinoma10.0TNFRSF11A, TNFSF11, TNFRSF11B, ALPP
46osteomalacia10.0ALPP, TNFRSF11B, CALCA
47secondary hyperparathyroidism of renal origin10.0CALCA, TNFRSF11B, ACP5, ALPP
48periodontal disease10.0ALPP, TNFRSF11B, TNFSF11, TNFRSF11A
49amyotrophic lateral sclerosis10.0HSPB2, OPTN, SQSTM1, VCP
50diabetes mellitus10.0CALCA, ALPP

Graphical network of the top 20 diseases related to Paget's Disease of Bone:



Diseases related to paget's disease of bone

Clinical Features for Paget's Disease of Bone

Sources:
47OMIM
See all sources

Clinical features from OMIM:

602080

Clinical synopsis from OMIM:

602080

Drugs & Therapeutics for Paget's Disease of Bone

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Paget's Disease of Bone

Drug clinical trials:

Search ClinicalTrials for Paget's Disease of Bone

Search NIH Clinical Center for Paget's Disease of Bone

Search CenterWatch for Paget's Disease of Bone

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Paget's Disease of Bone

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Paget's Disease of Bone:

id Genetic test Affiliating Genes
1 Paget Disease Of Bone20 TNFRSF11A
2 Osteitis Deformans22

Anatomical Context for Paget's Disease of Bone

Sources:
33MalaCards, 14FMA
See all sources

MalaCards organs/tissues related to Paget's Disease of Bone:

33
Skin

FMA organs/tissues related to Paget's Disease of Bone:

14
Skull, Vertebral column, Pelvis, Set of limbs

Animal Models for Paget's Disease of Bone or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Paget's Disease of Bone:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.2ACP5, DKK1
2MP:00053909.9VCP, HSPB2, TNFRSF11A, TNFSF11, TNFRSF11B, DCSTAMP
3MP:00107689.8ALPP, DKK1, HSPB2, CALCA, GNE, VCP
4MP:00053879.6ACP5, VCP, SQSTM1, TNFRSF11B, TNFSF11, TNFRSF11A

Publications for Paget's Disease of Bone

Genetic Variations for Paget's Disease of Bone

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Paget's Disease of Bone:

63
id Symbol AA change Variation SNP ID
1SQSTM1p.Pro387LeuVAR_023592
2SQSTM1p.Pro392LeuVAR_023593rs104893941
3SQSTM1p.Ser399ProVAR_023594
4SQSTM1p.Met404ThrVAR_023595
5SQSTM1p.Met404ValVAR_023596
6SQSTM1p.Gly411SerVAR_023597
7SQSTM1p.Gly425ArgVAR_023598

Expression for genes affiliated with Paget's Disease of Bone

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Paget's Disease of Bone

Search GEO for disease gene expression data for Paget's Disease of Bone.

Pathways for genes affiliated with Paget's Disease of Bone

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN, 30KEGG
See all sources

Pathways related to Paget's Disease of Bone according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3TNFRSF11B, TNFSF11
2
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
Hide members
10.3SQSTM1, TNFSF11, TNFRSF11A
3
Hide members
10.3TNFRSF11B, TNFSF11, TNFRSF11A
410.3TNFRSF11A, TNFSF11, ACP5
5
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
10.2CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
610.2ACP5, TNFRSF11B, TNFSF11, TNFRSF11A
7
Hide members
10.2TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1, ACP5
810.2ACP5, SQSTM1, TNFRSF11B, TNFSF11, TNFRSF11A

Compounds for genes affiliated with Paget's Disease of Bone

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 2BitterDB
See all sources

Compounds related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1hcc-14510.7TNFRSF11B, TNFSF11
2denosumab45 1111.7CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
3teriparatide45 1111.7CALCA, TNFSF11, TNFRSF11B
4polyethylene4510.7TNFRSF11A, TNFSF11, TNFRSF11B
5ibandronate45 1111.7CALCA, TNFSF11, TNFRSF11B
6etidronate4510.6CALCA, TNFRSF11B, ALPP
7ipriflavone4510.6ALPP, CALCA
8clodronate45 50 1112.6ACP5, TNFRSF11B, TNFSF11, CALCA
9vitamin k24510.6CALCA, TNFSF11, TNFRSF11B, ALPP
10strontium ranelate4510.6CALCA, TNFSF11
11pamidronate45 50 1112.6CALCA, TNFSF11, TNFRSF11B, ALPP
12tartrate4510.6CALCA, TNFSF11, ACP5, ALPP
13risedronate45 60 50 29 1114.6CALCA, TNFSF11, TNFRSF11B, ALPP
14pyridinoline4510.6ALPP, ACP5, TNFRSF11B, CALCA
15raloxifene45 29 50 1113.6CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
16zoledronic acid4510.6ALPP, TNFRSF11B, TNFSF11, CALCA
17alendronate45 50 1112.6CALCA, TNFSF11, TNFRSF11B, ALPP
18etidronic acid45 50 1112.6CALCA, ALPP
19titanium4510.6TNFSF11, TNFRSF11B, ACP5, ALPP
20pmma4510.6ALPP, ACP5, TNFRSF11B, TNFSF11, CALCA
21deoxypyridinoline4510.6CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
2225-hydroxyvitamin d4510.6CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
23phosphorus4510.6CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
24hydroxyproline45 11 2412.6ALPP, ACP5, TNFRSF11B, CALCA
2524,25-dihydroxyvitamin d34510.6ALPP, CALCA
26hydroxyapatite4510.5TNFRSF11A, TNFSF11, TNFRSF11B, ACP5, ALPP
27laccer4510.5TNFRSF11A, TNFSF11
28procollagen4510.5TNFSF11, TNFRSF11B, ACP5, ALPP
291,25 dihydroxy vitamin d34510.5CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ACP5, ALPP
30calcitriol45 60 11 2413.5CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ACP5, ALPP
31calcium carbonate4510.5CALCA, ALPP
32vitamin d4510.5CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
33creatinine4510.4HSPB2, TNFSF11, TNFRSF11B, ACP5, ALPP
34pge24510.4CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ACP5, ALPP
35dexamethasone45 50 29 1113.4TNFSF11, TNFRSF11B, OPTN, ACP5, ALPP
36cyclosporin a45 29 6012.4CALCA, TNFSF11, TNFRSF11B, ACP5, ALPP
37gp 1304510.4TNFRSF11B, TNFSF11, TNFRSF11A
38sb 20358045 6011.4HSPB2, TNFSF11, TNFRSF11B, ALPP
39azathioprine45 50 2 1113.3TNFSF11, TNFRSF11B, ACP5
40vegf4510.3HSPB2, CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ALPP
41hydrocortisone45 2 60 1113.3ALPP, TNFRSF11B, CALCA
42sodium fluoride4510.2ALPP, CALCA
43tyrosine4510.2HSPB2, UBFD1, TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1
44serine4510.0HSPB2, TNFRSF11A, TNFSF11, TNFRSF11B, SQSTM1, VCP
45calcium45 50 11 2412.6HSPB2, CALCA, TNFRSF11A, TNFSF11, TNFRSF11B, ACP5

GO Terms for genes affiliated with Paget's Disease of Bone

Sources:
16Gene Ontology
See all sources

Biological processes related to Paget's Disease of Bone according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:07184810.5TNFSF11, TNFRSF11A
2monocyte chemotaxisGO:00254810.5TNFSF11, TNFRSF11A, CALCA
3TNFSF11-mediated signaling pathwayGO:07184710.5TNFRSF11A, TNFSF11
4osteoclast differentiationGO:03031610.5TNFRSF11A, TNFSF11, DCSTAMP
5positive regulation of fever generation by positive regulation of prostaglandin secretionGO:07181210.4TNFRSF11A, TNFSF11
6negative regulation of bone resorptionGO:04577910.4CALCA, TNFRSF11B
7bone resorptionGO:04545310.3TNFSF11, ACP5
8positive regulation of bone resorptionGO:04578010.2TNFSF11, DCSTAMP
9mammary gland alveolus developmentGO:06074910.1TNFSF11, TNFRSF11A

Products for genes affiliated with Paget's Disease of Bone

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Paget's Disease of Bone

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet